Emery-Dreifuss muscular dystrophy
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A teenager has elbow and ankle contractures and rigid spine. He has scapuloperoneal muscle weakness. His ECG shows heart block.
- XLR: EMD (emerin)
- AD/AR: LMNA (lamin A/C)
- Early contractures (elbows, ankles, spine)
- Slowly progressive weakness (humeroperoneal)
- Cardiac: conduction defects, arrhythmias, cardiomyopathy - may need pacemaker/ICD
- Clinical recognition of the triad: early joint contractures, humeroperoneal weakness, and cardiac conduction disease
- Serum creatine kinase mildly to moderately elevated; EMG myopathic; muscle biopsy or cardiac MRI supportive
- Confirm with molecular testing, typically a multigene panel including EMD (X-linked) and LMNA (autosomal dominant/recessive); emerin immunostaining on muscle or skin can support EMD-related disease
- Cardiology surveillance is the priority: serial ECG/Holter and echocardiography; early pacemaker or ICD for conduction block or arrhythmia (sudden death risk even with mild weakness)
- Physical therapy, stretching, and orthopedic management for contractures and spinal rigidity
- Monitor respiratory function; anesthesia planning and at-risk relative screening for cardiac disease
"EDMD clinical triad": Elbow and ankle contractures, Dystrophy of muscles (humeroperoneal weakness), and cardiac conduction Defects. The clinical triad of contractures + weakness + heart involvement distinguishes EDMD from other muscular dystrophies.
"LMNA = LaMinopathy": LMNA mutations cause many different phenotypes including EDMD, dilated cardiomyopathy, CMT peripheral neuropathy, lipodystrophy, and Hutchinson-Gilford progeria. Lamins are intermediate fiLAMENt proteins.